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rs78347057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78347057(G;T)
Make rs78347057(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101796744
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs78347057
ebirs78347057
HLIrs78347057
Exacrs78347057
Varsomers78347057
Maprs78347057
PheGenIrs78347057
hapmaprs78347057
1000 genomesrs78347057
hgdprs78347057
ensemblrs78347057
gopubmedrs78347057
geneviewrs78347057
scholarrs78347057
googlers78347057
pharmgkbrs78347057
gwascentralrs78347057
openSNPrs78347057
23andMers78347057
23andMe allrs78347057
SNP Nexus

SNPshotrs78347057
SNPdbers78347057
MSV3drs78347057
GWAS Ctlgrs78347057
GMAF0.0124
Max Magnitude0
ClinVar
Risk rs78347057(A,T;A,T)
Alt rs78347057(A,T;A,T)
Reference rs78347057(G;G)
Significance Pathogenic
Disease I cell disease not provided
Variation info
Gene GNPTAB
CLNDBN I cell disease not provided
Reversed 0
HGVS NC_000012.11:g.102190522G>A; NC_000012.11:g.102190522G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032296.1, RCV000224529.1,


[PMID 19617216OA-icon.png] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.